Canonical Allele Identifier: CA2188433

Gene: COL6A3

Linked Data

• dbSNP Id: rs765362144
• ExAC: 2:238269834 G / GTTTAATCCCGT
• gnomAD v2: 2-238269834-G-GTTTAATCCCGT
• gnomAD v4: 2-237361191-G-GTTTAATCCCGT
• MyVariant Identifiers: chr2:g.238269834_238269835insTTTAATCCCGT (hg19) ; chr2:g.237361191_237361192insTTTAATCCCGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237361191_237361192insTTTAATCCCGT , CM000664.2:g.237361191_237361192insTTTAATCCCGT	GRCh38
NC_000002.11:g.238269834_238269835insTTTAATCCCGT , CM000664.1:g.238269834_238269835insTTTAATCCCGT	GRCh37
NC_000002.10:g.237934573_237934574insTTTAATCCCGT	NCBI36
NG_008676.1:g.58016_58017insACGGGATTAAA , LRG_473:g.58016_58017insACGGGATTAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.5539-18_5539-17insACGGGATTAAA	ENSP00000315873.4:n.5539-18_5539-17insACG...
ENST00000295550.9:c.6157-18_6157-17insACGGGATTAAA MANE Select	ENSP00000295550.4:n.6157-18_6157-17insACG...
ENST00000295550.8:c.6157-18_6157-17insACGGGATTAAA	ENSP00000295550.4:n.6157-18_6157-17insACG...
ENST00000347401.7:c.4336-18_4336-17insACGGGATTAAA	ENSP00000315609.4:n.4336-18_4336-17insACG...
ENST00000353578.8:c.5539-18_5539-17insACGGGATTAAA	ENSP00000315873.4:n.5539-18_5539-17insACG...
ENST00000409809.5:c.5539-18_5539-17insACGGGATTAAA	ENSP00000386844.1:n.5539-18_5539-17insACG...
ENST00000472056.5:c.4336-18_4336-17insACGGGATTAAA	ENSP00000418285.1:n.4336-18_4336-17insACG...
NM_004369.3:c.6157-18_6157-17insACGGGATTAAA , LRG_473t1:c.6157-18_6157-17insACGGGATTAAA	NP_004360.2:n.6157-18_6157-17insACGGGATTA...
NM_057166.4:c.4336-18_4336-17insACGGGATTAAA	NP_476507.3:n.4336-18_4336-17insACGGGATTA...
NM_057167.3:c.5539-18_5539-17insACGGGATTAAA	NP_476508.2:n.5539-18_5539-17insACGGGATTA...
XM_005246065.1:c.5557-18_5557-17insACGGGATTAAA	XP_005246122.1:n.5557-18_5557-17insACGGGA...
XM_005246066.1:c.4936-18_4936-17insACGGGATTAAA	XP_005246123.1:n.4936-18_4936-17insACGGGA...
XM_006712253.1:c.5656-18_5656-17insACGGGATTAAA	XP_006712316.1:n.5656-18_5656-17insACGGGA...
XM_011510574.1:c.6154-18_6154-17insACGGGATTAAA	XP_011508876.1:n.6154-18_6154-17insACGGGA...
XM_011510575.1:c.3751-18_3751-17insACGGGATTAAA	XP_011508877.1:n.3751-18_3751-17insACGGGA...
XM_017003304.1:c.3751-18_3751-17insACGGGATTAAA	XP_016858793.1:n.3751-18_3751-17insACGGGA...
XM_024452684.1:c.4936-18_4936-17insACGGGATTAAA	XP_024308452.1:n.4936-18_4936-17insACGGGA...
NM_004369.4:c.6157-18_6157-17insACGGGATTAAA MANE Select	NP_004360.2:n.6157-18_6157-17insACGGGATTA...
NM_057166.5:c.4336-18_4336-17insACGGGATTAAA	NP_476507.3:n.4336-18_4336-17insACGGGATTA...
NM_057167.4:c.5539-18_5539-17insACGGGATTAAA	NP_476508.2:n.5539-18_5539-17insACGGGATTA...